Columbia University Medical Center

Columbia Study Seeks Patients For Study Of Macular Degeneration Genetics

New York, NY, January 2004 – Researchers at the Edward S. Harkness Eye Institute of Columbia University College of Physicians & Surgeons (P&S) are seeking patients for a research study examining the genetic underpinnings of age-related macular degeneration (AMD), the leading cause of blindness and vision loss in the United States. AMD affects an estimated 10 million Americans each year—more than glaucoma and cataracts combined (source: American Macular Degeneration Foundation). The prevalence of this disease is expected to grow substantially as life expectancy continues to increase and record numbers of baby boomers enter their senior years.
“The medical community needs to get a better understanding of what causes age-related macular degeneration, especially because treatment options are limited and more and more people are living longer and developing this disease,” said Dr. Rando Allikmets, Acquavella Assistant Professor of Ophthalmology at P&S and one of the study’s three primary investigators. “With this study, we aim to uncover any genetic mechanisms behind AMD, paving the way for the possibility of more and better treatments, as well as therapies that can undercut the disease before it ever begins.”
“A number of studies have shown that macular degeneration can run in families, possibly predisposing certain individuals to AMD later in life,” said Dr. R. Theodore Smith, associate clinical professor of ophthalmology at P&S and a co-principal investigator of the study. “The next step is to identify the gene or genes responsible in the disease process, which is what we hope to do during the course of our investigation.”
AMD impairs a person’s vision by attacking the central portion of the retina (“macula”). This part of the eye is responsible for central vision—the function that allows us to recognize things in fine detail. Symptoms of this devastating disease include blurriness, distortions, or “white-outs” in the center of the visual field, as well as changes in color perception or seeing straight lines as wavy or crooked. While severe macular degeneration can result in blindness, even a mild case can seriously damage a person’s quality of life—undermining one’s ability to do things most of us take for granted, including driving a car, reading a book or computer screen, watching television, and making out shapes, colors, and faces.

Participants in the macular degeneration genetics study at Columbia are asked to complete a questionnaire on their medical and family history, undergo a complete eye examination (which includes measurements of visual perceptiveness, eye photography, and macular assessments), and submit a blood sample for confidential DNA testing, enabling researchers to look for genes that may contribute to age-related macular degeneration. In turn, patients receive a thorough, expert evaluation of their eyesight and eye health at no cost to them, as well as any necessary referrals and treatment information.
To qualify for the study, participants must be AMD patients age 60 or older or people age 70 or older without the disease. People with a family history of AMD are strongly encouraged to inquire. For more information or to participate in a screening interview, contact Linda Buckta, study coordinator, at 212-305-0653 or lb2036@columbia.edu, or visit the study website, www.amdgenetics.hs.columbia.edu.

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